POGZ truncating alleles cause syndromic intellectual disability.

ABSTRACT:

Background

Large-scale cohort-based whole exome sequencing of individuals with neurodevelopmental disorders (NDDs) has identified numerous novel candidate disease genes; however, detailed phenotypic information is often lacking in such studies. De novo mutations in pogo transposable element with zinc finger domain (POGZ) have been identified in six independent and diverse cohorts of individuals with NDDs ranging from autism spectrum disorder to developmental delay.

Methods

Whole exome sequencing was performed on five unrelated individuals. Sanger sequencing was used to validate variants and segregate mutations with the phenotype in available family members.

Results

We identified heterozygous truncating mutations in POGZ in five unrelated individuals, which were confir

SUBMITTER: White J 

PROVIDER: S-EPMC4702300 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature